Pugach Irina, Stoneking Mark
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, D04103 Leipzig, Germany.
Investig Genet. 2015 Apr 1;6:6. doi: 10.1186/s13323-015-0024-0. eCollection 2015.
Although mtDNA and the non-recombining Y chromosome (NRY) studies continue to provide valuable insights into the genetic history of human populations, recent technical, methodological and computational advances and the increasing availability of large-scale, genome-wide data from contemporary human populations around the world promise to reveal new aspects, resolve finer points, and provide a more detailed look at our past demographic history. Genome-wide data are particularly useful for inferring migrations, admixture, and fine structure, as well as for estimating population divergence and admixture times and fluctuations in effective population sizes. In this review, we highlight some of the stories that have emerged from the analyses of genome-wide SNP genotyping data concerning the human history of Southern Africa, India, Oceania, Island South East Asia, Europe and the Americas and comment on possible future study directions. We also discuss advantages and drawbacks of using SNP-arrays, with a particular focus on the ascertainment bias, and ways to circumvent it.
尽管线粒体DNA(mtDNA)和非重组Y染色体(NRY)研究继续为了解人类群体的遗传历史提供有价值的见解,但近期技术、方法和计算方面的进展,以及来自世界各地当代人类群体的大规模全基因组数据越来越容易获取,有望揭示新的方面,解决更细微的问题,并更详细地审视我们过去的人口历史。全基因组数据对于推断迁移、混合以及精细结构特别有用,也有助于估计群体分化和混合时间以及有效群体大小的波动。在本综述中,我们重点介绍了从全基因组单核苷酸多态性(SNP)基因分型数据分析中得出的一些有关南部非洲、印度、大洋洲、东南亚岛屿、欧洲和美洲人类历史的情况,并对未来可能的研究方向进行评论。我们还讨论了使用SNP芯片的优缺点,特别关注确定偏倚以及规避它的方法。